Results 1 -
10
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109
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chen syndrome
- ... Guo X, Yuan C, Wang Z, Zhang G, Chen Y, Feng D, Hu J, Zhang H. The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines ...
- ... doi: 10.1038/ng.1084. Citation on PubMed Chen LY, Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013 Oct ...
- ... s0945-053x(98)00007-9. Citation on PubMed Chen Z, Bu W, Feng S, Wang H. Bart's syndrome in a family affected three consecutive generations with ...
- ... Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical ...
- ... 000015322. Citation on PubMed Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 ...
- ... Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. ...
- ... GATA1 PubMed GATA-BINDING PROTEIN 1; GATA1 DOWN SYNDROME NCBI Gene ClinVar Cabelof DC, Patel HV, Chen Q, van Remmen H, Matherly LH, Ge Y, Taub JW. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood. 2009 Sep 24;114(13):2753-63. ...
- ... 19. Citation on PubMed Sham MH, Lui VC, Chen BL, Fu M, Tam PK. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J Med Genet. 2001 Sep;38(9):E30. ...
- ... Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH. RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. J Pediatr Genet. 2017 Sep;6(3):155- ...
- ... 23. Citation on PubMed Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 ...
